FI3890765T3 - D-arg-2'6'-dmt-lys-phe-nh2 for use in treating or preventing sengers syndrome - Google Patents

Claims (1)

Patent Claims 1. Peptide D-Arg-2'6'-Dmt-Lys-Phe-NH> or a pharmaceutically acceptable salt thereof for use in the treatment or prevention of Sengers syndrome. 2. A peptide or salt for use according to claim 1, wherein the subject expresses reduced levels of acylglycerol kinase (AGK) expression compared to a normal control subject. 3. A peptide or salt for use according to any of claims 1-2, wherein the peptide is intended to be administered daily for 6 weeks or longer. 4. The peptide or salt for use of any of claims 1-3, wherein the peptide is intended to be administered daily for 12 weeks or longer. 5. The peptide or salt for use in any of claims 1-4, wherein the subject has been diagnosed with Sengers syndrome. 6. Peptide or salt for use according to claim 5, wherein Sengers syndrome comprises one or more of cataracts, hypertrophic cardiomyopathy, impaired cardiac function as assessed by ejection fraction, exercise intolerance, lactic acidosis, neutropenia, tachydyspnea, nystagmus, eosinophilia, cervical meningocele. , isolated complex 1 alteration, strabismus, hypotonia, hyporeflexia, delayed motor development, reduced AGK expression, reduced mitochondrial glutamate carrier 1 (GC1) levels, reduced mitochondrial adenine nucleotide transporter 1 (ANT1) levels, reduced mitochondrial adenine nucleotide transporter 3 ( ANT3) levels, decreased mitochondrial phosphate carrier (PiC) levels, and decreased mitochondrial inner membrane 22 translocase (TIM22) subunit S (hTim22, Tim29, and hTim9) levels. S 7. Peptide or salt for use according to any one of claims a 1-6, where the subject is a human. = 30 8. Peptide or salt for use according to any one of claims E: 1-/, wherein the peptide is intended to be administered orally, externally, systemically, intravenously, subcutaneously, intraocularly, intragastrically, or intramuscularly. D 9. Peptide or salt for use according to any one of claims > 35 1-8, to be administered separately, sequentially or simultaneously with a cardiovascular agent to a subject. 10. Peptide or salt for use according to claim 9, wherein the cardiovascular agent is selected from the group consisting of: diuretic, angiotensin converting enzyme (ACE) inhibitor, angiotensin II receptor blocker or inhibitor, angiotensin receptor neprilysin inhibitor (ARNI), I+ channel blocker or inhibitor, beta blocker , aldosterone antagonist, hydralazine and isosorbide dinitrate, diuretic and digoxin. 11. A salt for use according to any one of claims 1-10, wherein the pharmaceutically acceptable salt comprises an acetate, hydrochloride or trifluoroacetate salt. The peptide or salt for use according to claim 1, wherein the target is a mammalian target having reduced AGK expression compared to a normal control target. 13. A salt for use according to claim 12, wherein the pharmaceutically acceptable salt comprises an acetate, hydrochloride, or trifluoroacetate salt. e] N O N O © I a a O O < oO O 00 oO a w